Health Conditions

What is on the horizon?

Due to the advancements of medical technology, individuals with cystic fibrosis (CF) are living long into their adult years. As a result however, many older CF patients are developing a variety of complications of the disease that are more difficult to treat. In response, scientists and medical professionals continue to search for new, more effective diagnosis/treatment options for CF patients.

In 2005, the Food and Drug Administration (FDA) approved a new blood test that helps detect CF carriers. The "Tag-It Cystic Fibrosis Kit" directly analyzes an individual's DNA to determine whether or not a CF-related genetic defect is present. The genetic defect that causes cystic fibrosis can be described as a variation or a group of variations in a gene called the "cystic fibrosis trans-membrane conductance regulator" (CFTR) gene. This test should help determine the presence of the genetic variations in children as well as in adults who are carriers of the gene. Currently, the Tag-It Cystic Fibrosis Kit is only sold to specific labs located around the United States and is only available through physician referral.

Recent research focusing on the role of a protein called the cystic fibrosis transmembrane conductance regulator (CFTR) is starting to change the focus of cystic fibrosis treatment. The CFTR protein has been linked to the inability to clear mucus from the lungs and the abnormal ion movement often seen in CF patients. New therapeutic targets, medications, and therapies will most likely evolve around these new discoveries. In April 2007, Vertex Pharmaceuticals received approval from the FDA to start a phase IIa clinical trial to test the safety and efficacy of an experimental drug called "VX-770", a drug that may help to restore the function of the CFTR protein. The study will include CF patients and will aim to determine whether or not this new drug can help increase survival time. Another therapy that targets the CFTR protein, an experimental drug called "PTC- 124", has completed Phase I and II testing and has shown safety and tolerability as well as preliminary encouraging biologic results.

Drugs are also being developed to help correct the amount of salt transfer along the lining of cells in the lungs, which will help decrease the thickness of the mucus and secretions. One drug in particular, Denufosol (Inspire Pharmaceuticals, Inc.) recently completed Phase II trials to determine the effect of the drug on lung function in CF patients and demonstrated efficacy. A Phase III trial has begun.

Enzymes, called proteases (or neutrophil elastase inhibitors), normally found in the lungs have the potential to damage lung tissue. Damage can cause inflammation and decrease lung function. Healthy individuals produce substances called anti-proteases (or a1 antitrypsin and secretory leukoprotease inhibitor) that protect their lungs from the harmful effects of proteases. Patients with CF, however, do not make adequate amounts of anti-proteases. One area of research in CF treatment centers is on the development of anti-protease inhalers which should help decrease the inflammation and damage caused by natural proteases in CF patients.

According to the National Institute of Health (NIH), a new class of drugs is being developed for use in thinning mucus secretions for CF patients. These drugs derive from an unlikely source: toxins produced by tiny microorganisms that are responsible for the "red tides" that affect the coasts of Florida. The so-called "red tide toxin" can kill fish, contaminate shellfish, and create severe respiratory irritation in people. In attempting to combat the effects of red tide toxin, researchers have discovered that both a man-made compound known as -Naphthoyl-brevetoxin, and a natural compound, brevenal, that is produced by the organism itself behave much like the mucus-thinning drugs used to treat CF such as DNase (dornase alfa). The mechanism of action of the anti-toxin is unknown, but it is believed that it increases the movement of cilia (thin, hair-like projections that move liquid across the surface of lung cells) within the lung. Increased movement helps to keep mucus secretions from becoming stuck in the lungs. Additional studies will be needed to determine the safety of this medication and its potential for treating CF.

Experts are always looking at drugs that can help to reduce the inflammation of the lungs associated with CF. Researchers reported in late 2007 that the commonly prescribed anti-inflammatory/pain reliever, ibuprofen, was found to significantly slow the decline in lung function in children with CF, by almost 1/3. The concern with ibuprofen is the risk for increased ulceration and bleeding in the stomach and intestines with the dose that is required to be effective. Because of this risk, researchers continue to look for more options to treat the inflammation of CF.

Great advancements in gene technology have spurred a lot of excitement in healthcare professionals specializing in CF. Currently in development is a new technique used to insert healthy genes (called vectors) into the airways of CF patients. In the future, gene therapy may prove to be a vital element in the treatment of CF.